Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens


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Havasi V., Rowe S. M., Kolettis P. N., DAYANGAÇ ERDEN D., Sahin A., Grangeia A., ...More

FERTILITY AND STERILITY, vol.94, no.6, pp.2122-2127, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 94 Issue: 6
  • Publication Date: 2010
  • Doi Number: 10.1016/j.fertnstert.2009.11.044
  • Journal Name: FERTILITY AND STERILITY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2122-2127
  • Keywords: Congenital bilateral absence of the vas deferens, CBAVD, CFTR, cystic fibrosis, CF, modifier gene, TGF-beta, EDNRA, GROWTH-FACTOR-BETA, TRANSFORMING GROWTH-FACTOR-BETA-1 GENE, CFTR GENE, MALE-INFERTILITY, LUNG-DISEASE, IDENTIFICATION, MUTATIONS, FACTOR-BETA(1), REARRANGEMENTS, ENDOTHELIN-1
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes

Abstract

Objective: To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We tested the hypothesis that polymorphisms of transforming growth factor (TGF)-beta 1 (rs 1982073, rs 1800471) and endothelin receptor type A (EDNRA) (rs 5335, rs 1801708) are associated with the CBAVD phenotype.